Article
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
Epilepsia - 1 Oct 2006
Mancardi Maria Margherita, Striano Pasquale, Gennaro Elena, Madia Francesca, Paravidino Roberta, Scapolan Sara, Dalla Bernardina Bernardo, Bertini Enrico, Bianchi Amedeo, Capovilla Giuseppe, Darra Francesca, Elia Maurizio, Freri Elena, Gobbi Giuseppe, Granata Tiziana, Guerrini Renzo, Pantaleoni Chiara, Parmeggiani Antonia, Romeo Antonino, Santucci Margherita, Vecchi Marilena, Veggiotti Pierangelo, Vigevano Federico, Pistorio Angela, Gaggero Roberto, Zara Federico
Abstract excerpt
PURPOSE: The role of the familial background in severe myoclonic epilepsy of infancy (SMEI) has been traditionally emphasized in literature, with 25-70% of the patients having a family history of febrile seizures (FS) or epilepsy. We explored the genetic background of SMEI patients carrying SCN1A mutations to further shed light on the genetics of this disorder. METHODS: We analyzed the occurrence of FS and...
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